Potulska-Chromik, 2017: Overview of all reported DYT/PARK-GCH1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
6
|
n.a.
|
n.a.
|
Dystonia, limb
Dystonia, focal Lower limb dystonia Dystonia (any or unspecified) Dystonia, foot Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Parkinsonism
Bradykinesia |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
10
|
n.a.
|
Upper limb dystonia
Dystonia (any or unspecified) Dystonia, segmental/multifocal Dystonia, foot Dystonia, limb Lower limb dystonia Dystonia, task-specific Dystonia, hand Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
7
|
n.a.
|
n.a.
|
Dystonia, limb
Dystonia, segmental/multifocal Dystonia, generalized Dyskinesia Dystonia, foot Dystonia (any or unspecified) Diurnal fluctuations Lower limb dystonia Dystonia, axial Show more (+6) |
n.a.
|